SORT1 - sortilin 1 Gene

Homo sapiens

Also known as NT3; Gp95; NTR3; LDLCQ6

Gene ID: 6272 | Gene type: protein coding

About SORT1

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:109,309,575-109,397,918 (from NCBI)

This gene has 10 transcripts (splice variants), 269 orthologues, 4 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 47.1), testis (RPKM 30.3) and 22 other tissues.

Summary

This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by Furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

SORT1 Products(2)

mRNA	Protein	Name
NM_001205228.2	NP_001192157.1	sortilin isoform 2
NM_002959.7	NP_002950.3	sortilin isoform 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	10085125	GOA
enables nerve growth factor binding	IPI IPI: Inferred from physical interaction	14985763	GOA
enables nerve growth factor receptor activity	IDA IDA: Inferred from direct assay	14985763	GOA
enables neurotensin receptor activity, non-G protein-coupled	IDA IDA: Inferred from direct assay	9756851	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10085125	GOA
enables retromer complex binding	IDA IDA: Inferred from direct assay	18817523	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in D-glucose import	IMP IMP: Inferred from mutant phenotype	15992544	GOA
involved in G protein-coupled receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	18258592	GOA
involved in Golgi to endosome transport	IDA IDA: Inferred from direct assay	11331584	GOA
involved in Golgi to lysosome transport	IDA IDA: Inferred from direct assay	16787399	GOA
involved in endocytosis	IDA IDA: Inferred from direct assay	11331584	GOA
involved in endosome to lysosome transport	IDA IDA: Inferred from direct assay	11331584	GOA
involved in endosome transport via multivesicular body sorting pathway	IDA IDA: Inferred from direct assay	11331584	GOA
involved in extrinsic apoptotic signaling pathway via death domain receptors	IDA IDA: Inferred from direct assay	14985763	GOA
involved in myotube differentiation	IMP IMP: Inferred from mutant phenotype	18258592	GOA
involved in negative regulation of lipoprotein lipase activity	IDA IDA: Inferred from direct assay	10085125	GOA
involved in neuropeptide signaling pathway	IDA IDA: Inferred from direct assay	9756851	GOA
involved in neurotrophin TRK receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	14985763	GOA
involved in plasma membrane to endosome transport	IDA IDA: Inferred from direct assay	11331584	GOA
involved in regulation of gene expression	IMP IMP: Inferred from mutant phenotype	18258592	GOA
involved in response to insulin	IMP IMP: Inferred from mutant phenotype	15992544	GOA
involved in vesicle organization	IDA IDA: Inferred from direct assay	15992544	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	11331584	GOA
located in cell surface	IDA IDA: Inferred from direct assay	10085125	GOA
located in clathrin-coated pit	IDA IDA: Inferred from direct assay	11331584	GOA
located in clathrin-coated vesicle	IDA IDA: Inferred from direct assay	11331584	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	9756851	GOA
located in early endosome	IDA IDA: Inferred from direct assay	11331584	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	18817523	GOA
located in lysosome	IDA IDA: Inferred from direct assay	28541286	GOA
located in membrane	IDA IDA: Inferred from direct assay	15992544	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	11331584	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11331584	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

sortilin

100 kDa NT receptor

SORT1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SORT1	Q99523	NTRK1	Homo sapiens	P04629	IF	21102451
Intra	SORT1	Q99523	NGF	Homo sapiens	P01138	Crosslink	14985763
Intra	SORT1	Q99523	NGF	Homo sapiens	P01138	SPR	19122660
Intra	SORT1	Q99523	NGF	Homo sapiens	P01138	SPR	14985763
Intra	SORT1	Q99523	CNTF	Homo sapiens	P26441	SPR	20584990
Intra	SORT1	Q99523	CNTF	Homo sapiens	P26441	Confocal	20584990
Intra	SORT1	Q99523	SORCS1	Homo sapiens	Q8WY21	SPR	24128306
Intra	SORT1	Q99523	Q99523-PRO_0000033162	Homo sapiens	Q99523-PRO_0000033162	SPR	24128306
Intra	SORT1	Q99523	Q99523-PRO_0000033162	Homo sapiens	Q99523-PRO_0000033162	SPR	25401472
Intra	SORT1	Q99523	GLA	Homo sapiens	P06280	SPR	21949853
Cross	SORT1	Q99523	Ctf2	Mus musculus	P83714	SPR	20584990
Cross	SORT1	Q99523	Sorcs1	Mus musculus	Q9JLC4	SPR	24128306
Intra	SORT1	Q99523	TG	Homo sapiens	P01266	SPR	18687776
Intra	SORT1	Q99523	NTRK3	Homo sapiens	Q16288	SPR	21102451
Intra	SORT1	Q99523	GGA1	Homo sapiens	Q9UJY5	Y2H	11390366
Intra	SORT1	Q99523	GGA1	Homo sapiens	Q9UJY5	Pull Down	11390366
Intra	SORT1	Q99523	LRPAP1	Homo sapiens	P30533	SPR	20584990
Intra	SORT1	Q99523	LRPAP1	Homo sapiens	P30533	SPR	19122660
Intra	SORT1	Q99523	LRPAP1	Homo sapiens	P30533	SPR	18687776
Intra	SORT1	Q99523	IL6	Homo sapiens	P05231	IF	25401472
Intra	SORT1	Q99523	IL6	Homo sapiens	P05231	Crosslink	25401472
Intra	SORT1	Q99523	IL6	Homo sapiens	P05231	SPR	25401472
Intra	SORT1	Q99523	GRN	Homo sapiens	P28799	Solid Phase Assay	24070898
Intra	SORT1	Q99523	LIFR	Homo sapiens	P42702	PLA	20584990
Intra	SORT1	Q99523	LIFR	Homo sapiens	P42702	SPR	20584990
Intra	SORT1	Q99523	P01138-PRO_0000019599	Homo sapiens	P01138-PRO_0000019599	SPR	14985763
Cross	SORT1	Q99523	Tg	Rattus norvegicus	P06882	SPR	18687776
Cross	SORT1	Q99523	LPL	Bos taurus	P11151	Photoaffinity Labelling	10085125
Cross	SORT1	Q99523	LPL	Bos taurus	P11151	SPR	10085125

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SORT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P78773	Sortilin/SORT1 Protein, Human (HEK293, His)	Q99523-1 (S78-N755)	≥95%

Related Diseases

Diseases

Alias

Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6

LDLCQ6

Myocardial Infarction

Heart Attack	Myocardial Infarction, Susceptibility To
Myocardial Infarction 1	Myocardial Infarction, Protection Against
Myocardial Infarction, Decreased Susceptibility To	Myocardial Infarction, Decreased
Myocardial Infarct	MCI1
Premature Myocardial Infarction	Myocardial Infarction, Susceptibility To, Type 1

Fabry Disease

Alpha-Galactosidase A Deficiency	Anderson-Fabry Disease
Angiokeratoma Corporis Diffusum	Ceramide Trihexosidase Deficiency
Fabry Disease, Cardiac Variant	Fabry'S Disease
Hereditary Dystopic Lipidosis	Gla Deficiency
FD	Alpha Galactosidase Deficiency
Deficiency Of Melibiase	Angiokeratoma, Diffuse
Angiokeratoma Diffuse	Diffuse Angiokeratoma

Frontotemporal Dementia

Pallidopontonigral Degeneration	Frontotemporal Lobar Degeneration
Semantic Dementia	FTD
Frontotemporal Lobe Dementia	Multiple System Tauopathy With Presenile Dementia
Dementia, Frontotemporal	Frontotemporal Dementia With Parkinsonism
Mstd	Frontotemporal Lobar Degeneration With Tau Inclusions
Ftld With Tau Inclusions	Dementia, Frontotemporal, With Parkinsonism
Fldem	Ftdp17
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex	Ddpac
Wilhelmsen-Lynch Disease	Wld
Ppnd	Dementia, Frontotemporal, With Or Without Parkinsonism
Semantic Primary Progressive Aphasia	Semantic Variant Ppa
Wilhemsen-Lynch Disease	Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17	Ftd-Als
Ftld	Pick Complex
Pick Disease Of The Brain	Frontotemporal Dementia With Parkinsonism-17
Grn-Related Frontotemporal Dementia	Frontotemporal Dementia With Motor Neuron Disease
Dementia In Fronto-Temporal Lobar Degeneration	Ftd - [Frontotemporal Dementia]
Temple Dementia	Frontal Lobe Dementia

Essential Tremor

Benign Essential Tremor	Familial Tremor
Hereditary Essential Tremor	Essential Hereditary Tremor
Shaky Hand Syndrome	Benign Essential Tremor Syndrome
Tremor Hereditary Essential	Essential Tremor, Susceptibility To
Tremor, Hereditary Essential

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Mucolipidosis

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-153686	BVFP	Inhibitor	98.12%	Unkown
HY-RS13575	SORT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-132975	PrDiAzK	Inhibitor	/	Unkown
HY-153687	SORT-PGRN interaction inhibitor 2		/	Unkown
HY-159868	SORT1-IN-1	Inhibitor	/	Unkown
HY-159875	SORT1-IN-2	Inhibitor	/	Unkown
HY-159876	SORT1-IN-3	Inhibitor	/	Unkown
HY-159877	SORT1-IN-4	Inhibitor	/	Unkown
HY-159878	SORT1-IN-5	Inhibitor	/	Unkown
HY-D1581	BODIPY 505/515-8-C3-COOH		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SORT1	VGNC	VGNC:35133
Rattus norvegicus	SORT1	RGD	RGD:619999
Macaca mulatta	SORT1	VGNC	VGNC:77836
Mus musculus	SORT1	MGD	MGI:1338015
Canis familiaris	SORT1	VGNC	VGNC:46664
Felis catus	SORT1	VGNC	VGNC:65575
Others	SORT1	NCBI

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